DECIPHER (D atabas e of Genomi c Var i ation and P henotype in H umans Using E nsembl
R esources) shares candidate diagnostic variants and phenotypic data from patients with …

Background Peripartum cardiomyopathy shares some clinical features with idiopathic
dilated cardiomyopathy, a disorder caused by mutations in more than 40 genes, including …

Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most
cases are of unknown pathogenesis. Objective: To determine the contribution of de novo …

Background: Cancer therapy–induced cardiomyopathy (CCM) is associated with cumulative
drug exposures and preexisting cardiovascular disorders. These parameters incompletely …

Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with> 100
purported disease genes tested in clinical laboratories. However, many genes were …

Digital droplet PCR (ddPCR) is an assay that combines state‐of‐the‐art microfluidics
technology with TaqMan‐based PCR to achieve precise target DNA quantification at high …

Background International guidelines for variant interpretation in Mendelian disease set
stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive …

Background—The geographic isolation and homogeneous population of Iceland are ideally
suited to ascertain clinical and genetic characteristics of hypertrophic cardiomyopathy …

Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority
for clinical genome interpretation. State-of-the-art machine learning variant prioritization …

Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
is of paramount importance with the growing availability of genetic testing. We estimated …